coloboma

Summary

DOID:12270 - coloboma

Disease Ontology Definition:An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.

Synonyms: coloboma of eye, coloboma of macula, congenital ocular coloboma,

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pax6, shh, sall2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0001476 - coloboma

MONDO:0001476 - coloboma

OMIM:

OMIM:120200 - COLOBOMA, OCULAR, AUTOSOMAL DOMINANT
OMIM:120300 - COLOBOMA OF MACULA
OMIM:216820 - COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE

OMIM:120200 - COLOBOMA, OCULAR, AUTOSOMAL DOMINANT

OMIM:120300 - COLOBOMA OF MACULA

OMIM:216820 - COLOBOMA, OCULAR, AUTOSOMAL RECESSIVE

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): eye disease (is_a)